Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: CLCN7 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000410907.1:p.Asn750Lys	CA394185103 ENST00000448525.5:c.2250C>G CA394185104 ENST00000448525.5:c.2250C>A